Canonical Allele Identifier: PA235192
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160221
ClinVar RCV Id: RCV000154106 RCV000147884
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570853.1:p.Gly850Asp
CA235190
NM_130838.1:c.2549G>A